Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Du Xuqin, Wang Yiran, Ye Qiao

Abstract excerpt

OBJECTIVE: To carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT). METHODS: High throughput sequencing was performed to detect potential mutation in the coding regions of endoglin (ENG), activin receptor-like kinase 1 (ACVRL1) and mothers against decapentaplegic homolog 4 (SMAD4) genes. RESULTS: A pathogenic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Activin Receptors, Type II
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Endoglin

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Hypertension, Pulmonary

Share to Mutation

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 29652991
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.011

Genes

ACVRL1
ENG
SMAD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia].PMID 29652991Read ↗

[Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

[Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by endoglin gene mutation].Semantic proximity Read ↗

[Gene identification in a family of hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

[Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia].Semantic proximity Read ↗

[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].Semantic proximity Read ↗

Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.Semantic proximity Read ↗

Pulmonary hypertension associated with hereditary haemorrhagic telangiectasia: from genetics to clinical management.Semantic proximity Read ↗

Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.Semantic proximity Read ↗

Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report.Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new eraSemantic proximity Read ↗

Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.